Unstable proteins are the main drivers of many different heritable diseases, according to a new study, including genetic disorders responsible for the formation of cataracts, and different types of ...

A new statistical framework could speed up the search for rare mutations that cause common diseases, helping researchers zero ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

New mutation filter: Researchers created a statistical method to separate cancer-driving mutations from harmless age-related ones. Age as a clue: Mutations common in younger cancer patients are more ...

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...

In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...

The risk of older fathers passing on disease-causing mutations to their children is higher than we thought. Genome sequencing has revealed that among men in their early thirties, around 1 in 50 sperm ...